Canonical Allele Identifier: CA1697231111

Gene: CHN2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398056_29398060delinsAAAGG , CM000669.2:g.29398056_29398060delinsAAAGG	GRCh38
NC_000007.13:g.29437672_29437676delinsAAAGG , CM000669.1:g.29437672_29437676delinsAAAGG	GRCh37
NC_000007.12:g.29404197_29404201delinsAAAGG	NCBI36
NG_029365.2:g.256510_256514delinsAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.216-317_216-313delinsAAAGG	ENSP00000386968.2:n.216-317_216-313delinsAAAGG
ENST00000439384.6:n.439-317_439-313delinsAAAGG
ENST00000446446.6:c.177-317_177-313delinsAAAGG	ENSP00000396867.2:n.177-317_177-313delinsAAAGG
ENST00000706158.1:c.*121-317_*121-313delinsAAAGG	ENSP00000516236.1:n.*121-317_*121-313delinsAAAGG
ENST00000706159.1:c.89-317_89-313delinsAAAGG	ENSP00000516237.1:n.89-317_89-313delinsAAAGG
ENST00000706160.1:c.177-317_177-313delinsAAAGG	ENSP00000516238.1:n.177-317_177-313delinsAAAGG
ENST00000706161.1:c.255-317_255-313delinsAAAGG	ENSP00000516239.1:n.255-317_255-313delinsAAAGG
ENST00000706162.1:c.177-317_177-313delinsAAAGG	ENSP00000516240.1:n.177-317_177-313delinsAAAGG
ENST00000706163.1:c.50-82223_50-82219delinsAAAGG	ENSP00000516241.1:n.50-82223_50-82219delinsAAAGG
ENST00000222792.11:c.177-317_177-313delinsAAAGG MANE Select	ENSP00000222792.7:n.177-317_177-313delinsAAAGG
ENST00000644824.1:c.402-317_402-313delinsAAAGG	ENSP00000495614.1:n.402-317_402-313delinsAAAGG
ENST00000222792.10:c.177-317_177-313delinsAAAGG	ENSP00000222792.6:n.177-317_177-313delinsAAAGG
ENST00000409350.5:c.216-317_216-313delinsAAAGG	ENSP00000386968.1:n.216-317_216-313delinsAAAGG
ENST00000409922.5:n.388-317_388-313delinsAAAGG
ENST00000409964.6:n.376-317_376-313delinsAAAGG
ENST00000412536.5:n.197-317_197-313delinsAAAGG
ENST00000435288.6:c.168+4354_168+4358delinsAAAGG	ENSP00000400282.3:n.168+4354_168+4358delinsAAAGG
ENST00000439384.5:c.402-317_402-313delinsAAAGG	ENSP00000409843.1:n.402-317_402-313delinsAAAGG
ENST00000474070.5:c.277-317_277-313delinsAAAGG
ENST00000478128.6:n.271-317_271-313delinsAAAGG
ENST00000482820.6:n.386-317_386-313delinsAAAGG
ENST00000491856.1:n.1409_1413delinsAAAGG
ENST00000495789.6:c.177-317_177-313delinsAAAGG	ENSP00000438587.2:n.177-317_177-313delinsAAAGG
ENST00000539389.5:c.177-317_177-313delinsAAAGG	ENSP00000440526.2:n.177-317_177-313delinsAAAGG
ENST00000539406.5:c.177-317_177-313delinsAAAGG	ENSP00000444063.2:n.177-317_177-313delinsAAAGG
NM_001293069.1:c.402-317_402-313delinsAAAGG	NP_001279998.1:n.402-317_402-313delinsAAAGG
NM_001293070.1:c.216-317_216-313delinsAAAGG	NP_001279999.1:n.216-317_216-313delinsAAAGG
NM_001293071.1:c.72-317_72-313delinsAAAGG	NP_001280000.1:n.72-317_72-313delinsAAAGG
NM_001293072.1:c.132-317_132-313delinsAAAGG	NP_001280001.1:n.132-317_132-313delinsAAAGG
NM_004067.3:c.177-317_177-313delinsAAAGG	NP_004058.1:n.177-317_177-313delinsAAAGG
XM_011515105.1:c.480-317_480-313delinsAAAGG	XP_011513407.1:n.480-317_480-313delinsAAAGG
XM_011515106.1:c.441-317_441-313delinsAAAGG	XP_011513408.1:n.441-317_441-313delinsAAAGG
XM_011515107.1:c.255-317_255-313delinsAAAGG	XP_011513409.1:n.255-317_255-313delinsAAAGG
XM_011515108.1:c.177-317_177-313delinsAAAGG	XP_011513410.1:n.177-317_177-313delinsAAAGG
XM_011515109.1:c.138-317_138-313delinsAAAGG	XP_011513411.1:n.138-317_138-313delinsAAAGG
XM_011515110.1:c.99-317_99-313delinsAAAGG	XP_011513412.1:n.99-317_99-313delinsAAAGG
XM_011515111.1:c.72-317_72-313delinsAAAGG	XP_011513413.1:n.72-317_72-313delinsAAAGG
XM_011515112.1:c.480-317_480-313delinsAAAGG	XP_011513414.1:n.480-317_480-313delinsAAAGG
XM_011515105.2:c.480-317_480-313delinsAAAGG	XP_011513407.1:n.480-317_480-313delinsAAAGG
XM_011515106.2:c.441-317_441-313delinsAAAGG	XP_011513408.1:n.441-317_441-313delinsAAAGG
XM_011515107.2:c.255-317_255-313delinsAAAGG	XP_011513409.1:n.255-317_255-313delinsAAAGG
XM_017011721.1:c.498-317_498-313delinsAAAGG	XP_016867210.1:n.498-317_498-313delinsAAAGG
XM_017011722.1:c.273-317_273-313delinsAAAGG	XP_016867211.1:n.273-317_273-313delinsAAAGG
NM_004067.4:c.177-317_177-313delinsAAAGG MANE Select	NP_004058.1:n.177-317_177-313delinsAAAGG
NM_001293070.2:c.216-317_216-313delinsAAAGG	NP_001279999.1:n.216-317_216-313delinsAAAGG
NM_001293071.2:c.72-317_72-313delinsAAAGG	NP_001280000.1:n.72-317_72-313delinsAAAGG
NM_001293072.2:c.132-317_132-313delinsAAAGG	NP_001280001.1:n.132-317_132-313delinsAAAGG
NM_001398427.1:c.-262-317_-262-313delinsAAAGG	NP_001385356.1:n.-262-317_-262-313delinsAAAGG